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exostosin glycosyltransferase 1

Summary

Gene Symbol

EXT1

Aliases

Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
ttv

Organism

Homo sapiens (human)

External Links

NCBI Gene

2131

GGDB ID

gg158

HGNC

3512

mRNA

NM_000127

map

8q24.11-q24.13

Protein

NP_000118

OMIM

608177

KEGG Gene ID

hsa:2131

PubChem

2131

Alliance of Genome Resources

HGNC:3512

Annotation

Keyword

3D-structure
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Glycosyltransferase
Golgi apparatus
Hereditary multiple exostoses
Manganese
Metal-binding
Reference proteome
Signal-anchor
Transmembrane helix
Tumor suppressor

Proteins

Displaying 1 entry
UniProt	Protein Name
Q16394	Exostosin glycosyltransferase 1 Heparan sulfate co-polymerase subunit EXT1 Multiple exostoses protein 1 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 81 in total

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GO Term	Evidence Code	PMID
endochondral ossification	IEA
sebaceous gland development	IEA
protein-containing complex assembly	IEA
sulfation	IEA
cartilage development involved in endochondral bone morphogenesis	IEA

GO Hierarchy

biological process

immune system process [inference]

immune response [inference]

inflammatory response to antigenic stimulus [inference]

acute inflammatory response to antigenic stimulus [inference]

hypersensitivity

antigen processing and presentation

leukocyte migration [inference]

mononuclear cell migration [inference]

dendritic cell migration

lymphocyte migration [inference]

lymphocyte migration into lymphoid organs

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein catabolic process

protein modification process [inference]

protein glycosylation

organonitrogen compound catabolic process [inference]

protein catabolic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

sulfur compound biosynthetic process [inference]

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process

sulfur compound biosynthetic process [inference]

sulfation

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

sulfur compound biosynthetic process [inference]

primary metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein catabolic process

protein modification process [inference]

protein glycosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process

macromolecule catabolic process [inference]

protein catabolic process

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein catabolic process

protein modification process [inference]

protein glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

macromolecule glycosylation [inference]

protein glycosylation

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein catabolic process

protein modification process [inference]

protein glycosylation

organonitrogen compound catabolic process [inference]

protein catabolic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, glutamatergic

cell adhesion [inference]

cell adhesion mediated by integrin

cell-cell adhesion [inference]

leukocyte cell-cell adhesion [inference]

leukocyte adhesion to vascular endothelial cell [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

transforming growth factor beta receptor superfamily signaling pathway [inference]

BMP signaling pathway

smoothened signaling pathway [inference]

smoothened signaling pathway involved in lung development

Wnt signaling pathway [inference]

canonical Wnt signaling pathway

cell recognition [inference]

neuron recognition [inference]

dendrite self-avoidance

cell population proliferation [inference]

chondrocyte proliferation

cell growth [inference]

developmental cell growth [inference]

chondrocyte hypertrophy

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process

sulfur compound biosynthetic process [inference]

sulfation

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

sulfur compound biosynthetic process [inference]

cellular developmental process [inference]

cell differentiation [inference]

hematopoietic progenitor cell differentiation [inference]

hematopoietic stem cell differentiation

epithelial cell differentiation [inference]

columnar/cuboidal epithelial cell differentiation [inference]

glandular epithelial cell differentiation

epithelial cell differentiation involved in kidney development [inference]

glomerular epithelial cell differentiation [inference]

podocyte differentiation

mesenchymal cell differentiation [inference]

stem cell differentiation [inference]

cell differentiation involved in kidney development [inference]

epithelial cell differentiation involved in kidney development [inference]

glomerular epithelial cell differentiation [inference]

podocyte differentiation

renal filtration cell differentiation [inference]

podocyte differentiation

cell fate commitment

cell motility [inference]

cell migration [inference]

hematopoietic stem cell migration [inference]

hematopoietic stem cell migration to bone marrow

leukocyte migration [inference]

mononuclear cell migration [inference]

dendritic cell migration

lymphocyte migration [inference]

lymphocyte migration into lymphoid organs

cell division [inference]

stem cell division

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vacuole organization

cellular component assembly [inference]

protein-containing complex assembly

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development [inference]

neuron projection guidance [inference]

axon guidance

cell junction organization [inference]

cell-cell junction organization [inference]

tight junction organization

extracellular structure organization [inference]

extracellular matrix organization [inference]

protein-containing complex organization [inference]

protein-containing complex assembly

external encapsulating structure organization [inference]

extracellular matrix organization [inference]

supramolecular fiber organization [inference]

collagen fibril organization

multicellular organismal process [inference]

ossification

replacement ossification [inference]

endochondral ossification

ossification involved in bone maturation

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube [inference]

epithelial tube branching involved in lung morphogenesis

system process [inference]

circulatory system process [inference]

heart process [inference]

heart contraction

vascular process in circulatory system [inference]

blood vessel diameter maintenance [inference]

vasodilation

pattern specification process [inference]

regionalization [inference]

specification of animal organ identity [inference]

heart field specification

behavior [inference]

molting cycle process [inference]

hair cycle process [inference]

hair follicle morphogenesis

multicellular organismal response to stress [inference]

fear response

multicellular organism growth

organ growth [inference]

bone growth [inference]

endochondral bone growth

tissue remodeling [inference]

blood vessel remodeling

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells [inference]

hematopoietic stem cell homeostasis

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

bone resorption

multicellular organismal-level chemical homeostasis [inference]

multicellular organismal-level water homeostasis

developmental process [inference]

anatomical structure morphogenesis [inference]

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube [inference]

epithelial tube branching involved in lung morphogenesis

animal organ morphogenesis [inference]

bone morphogenesis [inference]

membrane bone morphogenesis [inference]

perichondral bone morphogenesis

hair follicle morphogenesis

tube morphogenesis [inference]

branching morphogenesis of an epithelial tube [inference]

epithelial tube branching involved in lung morphogenesis

limb joint morphogenesis

embryonic morphogenesis [inference]

gastrulation

tissue morphogenesis [inference]

morphogenesis of an epithelium [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube [inference]

epithelial tube branching involved in lung morphogenesis

anatomical structure development [inference]

tissue development [inference]

nerve development [inference]

cranial nerve development [inference]

optic nerve development

animal organ development [inference]

gland development [inference]

cartilage development [inference]

cartilage development involved in endochondral bone morphogenesis

system development [inference]

skeletal system development [inference]

embryonic skeletal system development [inference]

embryonic skeletal joint development

cellular developmental process [inference]

cell differentiation [inference]

hematopoietic progenitor cell differentiation [inference]

hematopoietic stem cell differentiation

epithelial cell differentiation [inference]

columnar/cuboidal epithelial cell differentiation [inference]

glandular epithelial cell differentiation

epithelial cell differentiation involved in kidney development [inference]

glomerular epithelial cell differentiation [inference]

podocyte differentiation

mesenchymal cell differentiation [inference]

stem cell differentiation [inference]

cell differentiation involved in kidney development [inference]

epithelial cell differentiation involved in kidney development [inference]

glomerular epithelial cell differentiation [inference]

podocyte differentiation

renal filtration cell differentiation [inference]

podocyte differentiation

cell fate commitment

growth [inference]

cell growth [inference]

developmental cell growth [inference]

chondrocyte hypertrophy

developmental growth [inference]

multicellular organism growth

organ growth [inference]

bone growth [inference]

endochondral bone growth

developmental cell growth [inference]

chondrocyte hypertrophy

developmental growth involved in morphogenesis

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells [inference]

hematopoietic stem cell homeostasis

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

bone resorption

multicellular organismal-level chemical homeostasis [inference]

multicellular organismal-level water homeostasis

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

monoatomic cation homeostasis [inference]

sodium ion homeostasis

inorganic ion homeostasis [inference]

sodium ion homeostasis

multicellular organismal-level chemical homeostasis [inference]

multicellular organismal-level water homeostasis

biological process involved in interspecies interaction between organisms [inference]

response to other organism [inference]

response to virus [inference]

cellular response to virus

response to stimulus [inference]

response to stress [inference]

defense response [inference]

inflammatory response [inference]

inflammatory response to antigenic stimulus [inference]

acute inflammatory response to antigenic stimulus [inference]

hypersensitivity

acute inflammatory response [inference]

acute inflammatory response to antigenic stimulus [inference]

hypersensitivity

response to wounding [inference]

wound healing

multicellular organismal response to stress [inference]

fear response

immune response [inference]

inflammatory response to antigenic stimulus [inference]

acute inflammatory response to antigenic stimulus [inference]

hypersensitivity

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus [inference]

cellular response to virus

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus [inference]

cellular response to virus

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus [inference]

response to light intensity

response to chemical [inference]

response to organic substance [inference]

response to organonitrogen compound [inference]

response to heparin

response to cytokine [inference]

response to leukemia inhibitory factor

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

response to heparin

response to oxygen-containing compound [inference]

response to heparin

localization [inference]

establishment of localization [inference]

transport [inference]

fluid transport

biological process involved in intraspecies interaction between organisms [inference]

social behavior

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of cytokine-mediated signaling pathway [inference]

regulation of tumor necrosis factor-mediated signaling pathway

signaling [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, glutamatergic

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of cytokine-mediated signaling pathway [inference]

regulation of tumor necrosis factor-mediated signaling pathway

regulation of response to cytokine stimulus [inference]

regulation of cytokine-mediated signaling pathway [inference]

regulation of tumor necrosis factor-mediated signaling pathway

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

transforming growth factor beta receptor superfamily signaling pathway [inference]

BMP signaling pathway

smoothened signaling pathway [inference]

smoothened signaling pathway involved in lung development

Wnt signaling pathway [inference]

canonical Wnt signaling pathway

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of cytokine-mediated signaling pathway [inference]

regulation of tumor necrosis factor-mediated signaling pathway

regulation of biological quality [inference]

regulation of blood pressure

regulation of body fluid levels [inference]

multicellular organismal-level water homeostasis

regulation of anatomical structure size [inference]

regulation of tube size [inference]

regulation of tube diameter [inference]

blood vessel diameter maintenance [inference]

vasodilation

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GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA	10679296 9620772
endoplasmic reticulum membrane	ISS NAS	9620772
synapse	IEA
catalytic complex	IDA	10679296 36593275
Golgi apparatus	IBA IDA	10639137 10679296

GO Hierarchy

cellular component

protein-containing complex [inference]

catalytic complex

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

bounding membrane of organelle [inference]

Golgi membrane

cell junction [inference]

synapse

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

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GO Term	Evidence Code	PMID
heparan sulfate N-acetylglucosaminyltransferase activity	NAS	12907669
protein homodimerization activity	IDA	12907669
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA ISS NAS	12907669 36593275
metal ion binding	IEA
acetylglucosaminyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity

glucuronosyltransferase activity

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity

glucuronosyltransferase activity

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

binding [inference]

protein binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000182197

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg158

Gene Symbol

EXT1

Reactions

Displaying **all 4** entries
Donor	Acceptor	Reference
UDP-GalNAc	G99041PQ	12907685
UDP-GlcUA	G99041PQ	12907685
UDP-GalNAc	G14371GV	12907685
UDP-GlcUA	G14371GV	12907685

Displaying **all 4** entries
Donor	Acceptor	Reference
UDP-GlcUA	G14371GV	12907685
UDP-GlcUA	G99041PQ	12907685
UDP-GalNAc	G99041PQ	12907685
UDP-GalNAc	G14371GV	12907685

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Rattus norvegicus	XP_216920	XM_216920
Drosophila melanogaster	NP_477231	NM_057883
Caenorhabditis elegans	NP_502180	NM_069779
Mus musculus	NP_034292	NM_010162

KEGG BRITE Database

Orthology

K02366

Name

glucuronyl/N-acetylglucosaminyl transferase EXT1 [EC:2.4.1.224 2.4.1.225]

References

9665133

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R10138	2.4.1.225	G18844FT	G70244WB
R05935	2.4.1.225	G13581JW	G74553IH

Rhea

RHEA:20908

UDP-α-D-glucuronate

H⁺ + UDP

Enzyme

2.4.1.225

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of **133** in total

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DO ID	Disease Name	Source
DOID:0050561	Lennox-Gastaut syndrome	DisGeNET
DOID:0060041	autism spectrum disorder	DisGeNET Alliance of Genome Resources
DOID:0060221	Maffucci syndrome	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060262	gallbladder disease	DisGeNET
DOID:0060467	humeroradial synostosis	DisGeNET
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	DisGeNET
DOID:0060847	Leri-Weill dyschondrosteosis	DisGeNET
DOID:0080001	bone disease	DisGeNET
DOID:0080144	childhood acute lymphocytic leukemia	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 92 in total

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000016	Urinary retention
HP:0000076	Vesicoureteral reflux
HP:0000164	Abnormality of the dentition
HP:0000174	Abnormal palate morphology
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000343	Long philtrum
HP:0000368	Low-set, posteriorly rotated ears

Displaying **all 4** entries
Disease ID	Disease Name
ORPHA:321	hereditary multiple osteochondromas
OMIM:215300	chondrosarcoma
OMIM:133700	exostoses, multiple, type 1
ORPHA:502	trichorhinophalangeal syndrome type II

PubChem Disease

GHR Health Conditions

MedGen Diseases

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Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	178080	WB:WBGene00004360
Drosophila melanogaster	36614	FB:FBgn0265974
Callorhinchus milii	103184956		CALMI31067
Danio rerio	497280	ZFIN:ZDB-GENE-050211-4	DANRE16429
Danio rerio	497279	ZFIN:ZDB-GENE-050211-3
Ictalurus punctatus	108257122		ICTPU18886
Electrophorus electricus	113588018		ELEEL40569
Salmo salar	106588504		SALSA115533
Salmo trutta	115175999		SALTR03530
Xenopus laevis	398214	Xenbase:XB-GENE-17332106

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GlycoGene Database (GGDB)

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Acknowledgements